Mutagenetix > Incidental Mutation

Incidental Mutation 'R6073:Ihh'

512255

Institutional Source

Beutler Lab

Gene Symbol

Ihh

Ensembl Gene

ENSMUSG00000006538

Gene Name

Indian hedgehog

Synonyms

MMRRC Submission

044234-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6073 (G1)

Quality Score

56.0072

Status

Validated

Chromosome

Chromosomal Location

74984474-74990831 bp(-) (GRCm39)

Type of Mutation

utr 5 prime

DNA Base Change (assembly)

T to C at 74990438 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000128056 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000164097]

AlphaFold

P97812

Predicted Effect

probably benign
Transcript: ENSMUST00000164097

SMART Domains

Protein: ENSMUSP00000128056
Gene: ENSMUSG00000006538

Domain	Start	End	E-Value	Type
low complexity region	44	59	N/A	INTRINSIC
Pfam:HH_signal	66	227	2.7e-88	PFAM
HintN	239	346	3.15e-29	SMART
HintC	347	391	3.5e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189364

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194616

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.5%

Validation Efficiency

97% (57/59)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the hedgehog family of proteins. The encoded preproprotein is proteolytically processed to generate multiple protein products, including an N-terminal fragment that is involved in signaling. Hedgehog family proteins are essential secreted signaling molecules that regulate a variety of developmental processes including growth, patterning and morphogenesis. The protein encoded by this gene specifically plays a role in bone growth and differentiation. Mutations in this gene are the cause of brachydactyly type A1, which is characterized by shortening or malformation of the fingers and toes. Mutations in this gene are also the cause of acrocapitofemoral dysplasia. [provided by RefSeq, Nov 2015]
PHENOTYPE: Homozygotes die before or immediately after birth due to respiratory failure, exhibiting limb dwarfism associated with reduced chondrocyte proliferation, ectopic maturation of chondrocytes, and a failure of osteoblast development in endochondral bones. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adrb2	A	T	18: 62,312,537 (GRCm39)	M96K	probably benign	Het
Aox1	T	C	1: 58,143,668 (GRCm39)		probably null	Het
Bnip5	A	T	17: 29,123,597 (GRCm39)	V367D	probably damaging	Het
C3	C	T	17: 57,513,223 (GRCm39)	G183R	probably null	Het
Cad	A	G	5: 31,219,906 (GRCm39)	T753A	possibly damaging	Het
Cc2d2a	C	T	5: 43,887,317 (GRCm39)	T1249M	probably damaging	Het
Cd74	G	A	18: 60,944,558 (GRCm39)		probably null	Het
Cenpc1	A	G	5: 86,206,012 (GRCm39)		probably null	Het
Cenpe	T	A	3: 134,965,834 (GRCm39)	L2104*	probably null	Het
Cttnbp2	A	G	6: 18,434,232 (GRCm39)	I542T	probably damaging	Het
Cttnbp2	T	C	6: 18,448,368 (GRCm39)	D97G	probably benign	Het
Dnah10	A	G	5: 124,896,274 (GRCm39)	D3546G	probably benign	Het
Dscaml1	G	A	9: 45,361,881 (GRCm39)	V214I	probably benign	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Epb41l2	T	G	10: 25,377,730 (GRCm39)	H597Q	probably damaging	Het
Erbin	G	A	13: 103,981,429 (GRCm39)	Q499*	probably null	Het
Erc2	A	T	14: 27,733,593 (GRCm39)	I556F	probably benign	Het
Fscn2	G	T	11: 120,252,613 (GRCm39)	E27*	probably null	Het
Fsd1l	A	G	4: 53,679,994 (GRCm39)	T231A	probably damaging	Het
G6pc1	T	A	11: 101,258,802 (GRCm39)	N60K	probably benign	Het
Gm43302	A	G	5: 105,438,825 (GRCm39)	V21A	probably damaging	Het
Heatr3	G	T	8: 88,864,768 (GRCm39)	A41S	probably benign	Het
Hrct1	T	C	4: 43,727,543 (GRCm39)		probably benign	Het
Jph3	A	T	8: 122,480,291 (GRCm39)	Y323F	probably damaging	Het
Kcnj5	T	C	9: 32,229,096 (GRCm39)	D34G	probably damaging	Het
Magi2	G	A	5: 20,774,286 (GRCm39)	E231K	probably damaging	Het
Muc5b	A	C	7: 141,412,025 (GRCm39)	Y1657S	unknown	Het
Muc5b	G	A	7: 141,402,797 (GRCm39)	C667Y	unknown	Het
Myo10	G	A	15: 25,736,728 (GRCm39)	C459Y	probably damaging	Het
Nemp1	A	G	10: 127,525,112 (GRCm39)	K40E	probably benign	Het
Nipsnap1	T	C	11: 4,838,895 (GRCm39)	F107S	possibly damaging	Het
Ntrk1	T	C	3: 87,698,677 (GRCm39)		probably null	Het
Pabpc1	A	G	15: 36,600,895 (GRCm39)	I305T	probably damaging	Het
Piezo2	A	G	18: 63,145,716 (GRCm39)	F2736S	probably damaging	Het
Pnldc1	T	C	17: 13,109,250 (GRCm39)	Y450C	probably null	Het
Polr2g	A	T	19: 8,774,673 (GRCm39)	V70E	probably damaging	Het
Pramel23	T	C	4: 143,424,838 (GRCm39)	I202V	probably damaging	Het
Prpf8	T	C	11: 75,384,848 (GRCm39)		probably null	Het
Rfxap	T	C	3: 54,714,708 (GRCm39)	Y130C	probably damaging	Het
Rpl3l	A	G	17: 24,949,861 (GRCm39)	E20G	probably benign	Het
Rsf1	GGCGGCGGC	GGCGGCGGCCGCGGCGGC	7: 97,229,113 (GRCm39)		probably benign	Het
Slc39a10	T	C	1: 46,871,772 (GRCm39)	D389G	possibly damaging	Het
Sorbs1	T	C	19: 40,303,101 (GRCm39)	H496R	probably damaging	Het
Spast	G	A	17: 74,680,300 (GRCm39)	V420M	probably damaging	Het
Spata13	C	T	14: 60,987,470 (GRCm39)	T876I	probably damaging	Het
Spata31d1a	T	A	13: 59,850,808 (GRCm39)	N440I	probably damaging	Het
Tdrd1	G	T	19: 56,831,655 (GRCm39)	E349*	probably null	Het
Tie1	A	G	4: 118,339,587 (GRCm39)	V398A	probably benign	Het
Tmem255b	T	A	8: 13,506,958 (GRCm39)	L229Q	probably damaging	Het
Tmem59	T	A	4: 107,050,598 (GRCm39)		probably null	Het
Trim3	G	A	7: 105,266,746 (GRCm39)	R479C	probably damaging	Het
Ucp2	G	A	7: 100,147,338 (GRCm39)	V131M	possibly damaging	Het
Vars1	A	G	17: 35,220,505 (GRCm39)	D29G	probably benign	Het
Vmn2r43	T	C	7: 8,258,184 (GRCm39)	K343R	probably benign	Het
Washc5	T	C	15: 59,207,019 (GRCm39)	K1085E	possibly damaging	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	probably damaging	Het
Zfp963	A	T	8: 70,195,853 (GRCm39)	C86*	probably null	Het
Zfp977	A	G	7: 42,230,165 (GRCm39)	I120T	probably benign	Het

Other mutations in Ihh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01100:Ihh	APN	1	74,985,601 (GRCm39)	missense	probably damaging	1.00
IGL02174:Ihh	APN	1	74,990,105 (GRCm39)	missense	probably damaging	0.98
Echidna	UTSW	1	74,985,886 (GRCm39)	missense	probably benign	0.08
R0047:Ihh	UTSW	1	74,985,750 (GRCm39)	missense	probably benign	0.01
R0047:Ihh	UTSW	1	74,985,750 (GRCm39)	missense	probably benign	0.01
R1404:Ihh	UTSW	1	74,990,372 (GRCm39)	start codon destroyed	probably null
R1404:Ihh	UTSW	1	74,990,372 (GRCm39)	start codon destroyed	probably null
R2936:Ihh	UTSW	1	74,985,705 (GRCm39)	missense	probably damaging	0.97
R4520:Ihh	UTSW	1	74,990,109 (GRCm39)	missense	probably damaging	1.00
R4540:Ihh	UTSW	1	74,987,558 (GRCm39)	missense	possibly damaging	0.94
R5399:Ihh	UTSW	1	74,985,436 (GRCm39)	missense	probably benign	0.00
R5736:Ihh	UTSW	1	74,985,286 (GRCm39)	missense	probably benign
R6026:Ihh	UTSW	1	74,985,886 (GRCm39)	missense	probably benign	0.08
R6458:Ihh	UTSW	1	74,985,601 (GRCm39)	missense	probably damaging	1.00
R6489:Ihh	UTSW	1	74,985,670 (GRCm39)	missense	probably damaging	1.00
R7311:Ihh	UTSW	1	74,990,306 (GRCm39)	missense	unknown
R7350:Ihh	UTSW	1	74,987,492 (GRCm39)	missense	probably damaging	1.00
R7818:Ihh	UTSW	1	74,985,804 (GRCm39)	missense	possibly damaging	0.84
R7835:Ihh	UTSW	1	74,985,525 (GRCm39)	missense	probably damaging	0.98
R9128:Ihh	UTSW	1	74,985,498 (GRCm39)	missense	probably damaging	1.00
Z1176:Ihh	UTSW	1	74,985,253 (GRCm39)	missense	probably damaging	1.00
Z1189:Ihh	UTSW	1	74,990,204 (GRCm39)	missense	probably damaging	1.00
Z1192:Ihh	UTSW	1	74,990,204 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTTGAAGCGCTCAGAGCTGC -3'
(R):5'- AACGGGCCGGCCTATTTATTG -3'

Posted On

2018-04-12